Molecular characteristics

The SMARCA5 gene encodes an ATPase motor of the ISWI chromatin remodeling complex. Variants in SMARCA5 are scattered throughout the gene, but tend to cluster around the two helicase domains and the HAND-SANT-SLIDE domain. So far, missense, small inframe deletion, and splice-altering variants have been identified. The splice-altering variant leads to exon 7 skipping, resulting in an in-frame deletion in the ATPase domain.